-
Question: Pt w/ symptoms include tall stature, ectopia lentis, mitral
Answers
Pt w/ symptoms include tall stature, ectopia lentis, mitral valve prolapse, aortic root dilatation, and aortic dissection? What gene is missing and what is treatment of choice?
Marfan's Syndrome. Defect in fibrillin gene. Treat the aortic dissection with B-Blockers.
Marfan's Syndrome is an inherited (autosomal dominant) disorder, caused by a defective gene involved with the production of fibrillin. Fibrillin makes up part of connective tissue in the body, such as the blood vessels, eye lenses, and ligaments.
Signs and Symptoms
Patient has long, thin arms, legs, fingers, and toes.
Chest wall protrudes
Reduced vision and severe near-sightedness
Mitral valve prolapse
Aortic aneurysms (a bulge in the wall or the aorta, resembling a weak spot that bulges in an imperfect automobile tire) -- can have no symptoms; or might have fatigue, lightheadedness, and/or chest pain. Death may occur if the aneurysm ruptures.
Aortic Dissection (a torn area between the layers of the aortic wall, allowing blood to seep between the layers of the wall) -- can cause chest pain, tearing/ripping back pain, or death
Aortic Regurgitation -- chest pain, shortness of breath
Spontaneous Pneumothorax -- Collapsed Lungs may occur (severe, sudden shortness of breath)
Diagnosis
Mutations may be seen in chromosome 15, but no single test establishes the diagnosis.
Echocardiogram is performed to evaluate the patient's chest for an aortic aneurysm.
See section on Aortic Dissection for work up and management.
Ophthalmologic evaluation reveals lens dislocation and severe near-sightedness
Marfan's Syndrome is an inherited (autosomal dominant) disorder, caused by a defective gene involved with the production of fibrillin. Fibrillin makes up part of connective tissue in the body, such as the blood vessels, eye lenses, and ligaments.
Signs and Symptoms
Patient has long, thin arms, legs, fingers, and toes.
Chest wall protrudes
Reduced vision and severe near-sightedness
Mitral valve prolapse
Aortic aneurysms (a bulge in the wall or the aorta, resembling a weak spot that bulges in an imperfect automobile tire) -- can have no symptoms; or might have fatigue, lightheadedness, and/or chest pain. Death may occur if the aneurysm ruptures.
Aortic Dissection (a torn area between the layers of the aortic wall, allowing blood to seep between the layers of the wall) -- can cause chest pain, tearing/ripping back pain, or death
Aortic Regurgitation -- chest pain, shortness of breath
Spontaneous Pneumothorax -- Collapsed Lungs may occur (severe, sudden shortness of breath)
Diagnosis
Mutations may be seen in chromosome 15, but no single test establishes the diagnosis.
Echocardiogram is performed to evaluate the patient's chest for an aortic aneurysm.
See section on Aortic Dissection for work up and management.
Ophthalmologic evaluation reveals lens dislocation and severe near-sightedness
